Varaico: Literature-Extracted Genetic Variants

Gene:ZRSR2
Variant:p.K203fs

ZRSR2

425 papers

RefSeq Summary

This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRN...

Pfam Domains

zf-CCCHaa 167–193UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)
RRM_1aa 240–298UCSCRNA recognition motif

Gene Aliases

HGNC Name

zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

HGNC Previous Symbol

U2AF1L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005089.4
p.K203fs
c.607_608fs
Surrounding Variants
19 papers
NM_005089.4
p.I202N
c.605T>A
1 paper
NM_005089.4
p.I202T
c.605T>C
1 paper
NM_005089.4
p.I202_K203del2
c.604_608del6
1 paper
NM_005089.4
p.L201I
c.601C>A
1 paper
NM_005089.4
p.M205T
c.614T>C
1 paper
NM_005089.4
p.L200fs
c.598_599fs
1 paper
NM_005089.4
p.L200F
c.598C>T
1 paper
NM_005089.4
p.F206C
c.617T>G
1 paper
NM_005089.4
p.T199P
c.595A>C
1 paper
NM_005089.4
p.P198fs
c.592_593fs
1 paper
NM_005089.4
p.T208M
c.623C>T
1 paper
NM_005089.4
p.P198delFs
c.593delC
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